Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo

Background@#The role of vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms has been established in many autoimmune diseases, including vitiligo, but the result is still controversial. @*Objectives@#The aim of this study was to investigate the serum vitamin D levels in vitiligo patients and to compare the association of VDR gene polymorphisms in vitiligo patients and healthy controls. @*Methods@#We collected the data of age, sex, serum 25-hydroxy vitamin D (25[OH]D) level, thyroid autoantibodies, disease duration, types of vitiligo, family history and the affected body surface area of vitiligo from 172 patients. And we analyzed the VDR gene polymorphisms in 130 vitiligo and 453 age-sex-matched control subjects. @*Results@#The mean serum level of 25(OH)D in 172 vitiligo patients was 18.75 ± 0.60 ng/mL, which had no significant difference with a mean serum value of 25(OH)D in the Korean population. However, there were significant differences according to the duration of the disease and family history. Also, there were no significant differences in the genotypic and allelic distributions of 37 examined SNPs of VDR gene between vitiligo patients and healthy controls. @*Conclusion@#Serum level of 25(OH)D in vitiligo patients was not significantly different from the mean serum value of the Korean population. Also, there were no significant differences in the genotypic distributions of VDR gene between vitiligo patients and healthy controls.

The Role of Endoscopy in Small Bowel Neuroendocrine Tumors

Small bowel neuroendocrine tumors (NETs) represent approximately one-third of NETs of the gastrointestinal tract, and their incidence is increasing. When determining if endoscopic resection is appropriate, endoscopic ultrasound is used to assess the lesion size and depth of invasion for duodenal NETs. A number of techniques, including endoscopic mucosal resection (EMR), band-assisted EMR (band-EMR), endoscopic submucosal dissection (ESD), and over-the-scope clip-assisted endoscopic full-thickness resection (EFTR), have been studied; however, the best technique for endoscopic resection remains unclear. The vast majority of currently available data are retrospective, and prospective studies with longer follow-up times are required. For jejunal and ileal NETs, endoscopic techniques such as video capsule endoscopy (VCE) and balloon enteroscopy (BE) assist in diagnosis. This includes localization of the primary NET in metastatic disease where initial workup has been negative, and the identification of multifocal disease, which may change management and prognostication.

The Antioxidant Effect of Small Extracellular Vesicles Derived from Aloe vera Peels for Wound Healing

Background@#Extracellular vesicles (EVs) derived from plants have emerged as potential candidates for cosmetic and therapeutic applications. In this study, we isolated EVs from Aloe vera peels (A-EVs) and investigated the antioxidant and wound healing potential of A-EVs. @*Methods@#A-EVs were isolated by ultracentrifugation and tangential flow filtration and were characterized using transmission electron microscopy, nanoparticle tracking analysis. The cytotoxicity and cellular uptake of A-EVs were investigated by WST-1 assay and flow cytometry. The antioxidant effect of A-EVs was evaluated by superoxide dismutase (SOD) activity assay and cellular antioxidant activity (CAA) assay. The wound healing potential was assessed by in vitro scratch assay using human keratinocytes (HaCaT) and fibroblasts (HDF). The expression of nuclear factor erythroid 2–related factor 2 (Nrf2) and their associated genes was analyzed by quantitative RT-PCR. @*Results@#A-EVs displayed a round shape and had diameters from 50 to 200 nm. A-EVs showed good cytocompatibility on human skin cells and were internalized into HaCaT cells via clathrin-, caveolae-mediated endocytosis, and membrane fusion. The SOD activity and CAA assays exhibited that A-EVs had antioxidant activity and reduced intracellular ROS levels in H2O2-treated HaCaT cells in a dose-dependent manner. A scratch assay showed that A-EVs enhanced the migration ability of HaCaT and HDF. Moreover, A-EVs significantly upregulated the mRNA expression of Nrf2, HO-1, CAT, and SOD genes in H2O2-treated HaCaT cells. Our findings reveal that A-EVs could activate the antioxidant defense mechanisms and wound healing process via the Nrf2 activation. @*Conclusion@#Overall results suggest that the A-EVs are promising as a potential agent for skin regeneration.

The Antioxidant Effect of Small Extracellular Vesicles Derived from Aloe vera Peels for Wound Healing

Background@#Extracellular vesicles (EVs) derived from plants have emerged as potential candidates for cosmetic and therapeutic applications. In this study, we isolated EVs from Aloe vera peels (A-EVs) and investigated the antioxidant and wound healing potential of A-EVs. @*Methods@#A-EVs were isolated by ultracentrifugation and tangential flow filtration and were characterized using transmission electron microscopy, nanoparticle tracking analysis. The cytotoxicity and cellular uptake of A-EVs were investigated by WST-1 assay and flow cytometry. The antioxidant effect of A-EVs was evaluated by superoxide dismutase (SOD) activity assay and cellular antioxidant activity (CAA) assay. The wound healing potential was assessed by in vitro scratch assay using human keratinocytes (HaCaT) and fibroblasts (HDF). The expression of nuclear factor erythroid 2–related factor 2 (Nrf2) and their associated genes was analyzed by quantitative RT-PCR. @*Results@#A-EVs displayed a round shape and had diameters from 50 to 200 nm. A-EVs showed good cytocompatibility on human skin cells and were internalized into HaCaT cells via clathrin-, caveolae-mediated endocytosis, and membrane fusion. The SOD activity and CAA assays exhibited that A-EVs had antioxidant activity and reduced intracellular ROS levels in H2O2-treated HaCaT cells in a dose-dependent manner. A scratch assay showed that A-EVs enhanced the migration ability of HaCaT and HDF. Moreover, A-EVs significantly upregulated the mRNA expression of Nrf2, HO-1, CAT, and SOD genes in H2O2-treated HaCaT cells. Our findings reveal that A-EVs could activate the antioxidant defense mechanisms and wound healing process via the Nrf2 activation. @*Conclusion@#Overall results suggest that the A-EVs are promising as a potential agent for skin regeneration.

Association of the Promoter Haplotype of IFN-γ-Inducible Protein 16 Gene with Schizophrenia in a Korean Population

Objective@#Viral infections play an important role in the development of schizophrenia, inducing the faulty immunological responses and aberrant inflammation. IFN-γ-inducible protein 16 (IFI16) is an immunological DNA sensor against viral infections, triggering the inflammatory responses. In this study, we investigated an association between putative promoter single nucleotide polymorphisms (SNPs) and haplotypes of IFI16 and schizophrenia. @*Methods@#A total of 280 schizophrenia patients and 427 control subjects were recruited in this study. We genotyped three promoter SNPs (rs1465175, rs3754464, rs1417806) using direct sequencing. Associations of SNPs and haplotypes of IFI16 with schizophrenia were analyzed. The promoter activities on the haplotypes of IFI16 were measured. @*Results@#The T allele of rs1465175 and the C allele of rs1417806 were protectively associated with schizophrenia (p=0.021 on rs1465175; p=0.016 on rs1417806), whereas the G allele of rs3754464 was associated with an increased risk of schizophrenia (p=0.019). In haplotype analysis, a significant association between the GGA haplotype and schizophrenia was shown (p=0.013). Moreover, we found that the GGA haplotype elevated the promoter activity compared to the GAA haplotype, whereas the TAC haplotype reduced that. @*Conclusion@#The promoter SNPs and haplotypes of IFI16 may contribute to the susceptibility of schizophrenia, affecting the promoter activity of IFI16.

Effect of Glycyrrhizic Acid on Scopolamine-Induced Cognitive Impairment in Mice / 대한배뇨장애요실금학회지

Purpose@#Cognitive impairment is one of the main symptoms of Alzheimer disease and other dementias. Glycyrrhiza uralensis is a natural product that has a protective effect against cognitive impairment. In this study, we investigated whether glycyrrhizic acid, among the main bioactive components of Glycyrrhiza uralensis, has a neuroprotective effect on scopolamine-induced cognitive impairment. @*Methods@#Twenty-week-old male Institute of Cancer Research mice were used in this study. The scopolamine-induced cognitive impairment mice model was used. Glycyrrhizic acid was orally administered to mice once daily for 21 days, while scopolamine (1 mg/kg) treatment was delivered 30 minutes before behavioral tests. Donepezil (2 mg/kg) was used as a positive drug control. To evaluate the effect of glycyrrhizic acid, the following assessments were performed on hippocampal tissue: Y-maze test, acetylcholinesterase activity, antioxidant enzymes’ activity (superoxide dismutase, catalase). Western blotting for phosphor-extracellular signal-regulated kinase, P38, and c-Jun NH2-terminal kinase was conducted. @*Results@#We found that glycyrrhizic acid administration significantly improved scopolamine-induced cognitive impairment in the Y-maze test. The acetylcholinesterase activity, superoxide dismutase, and catalase activity in the glycyrrhizic acid-treated group showed a significant reversal of cognitive impairment compared with the scopolamine-treated group. @*Conclusions@#Our results suggest that glycyrrhizic acid has a neuroprotective effect on cognitive function in scopolamine-induced cognitive impairment.

Clinical Characteristics and Outcomes of Smartphone Overusers with Acute Acquired Comitant Esotropia

PURPOSE: To evaluate the clinical features and treatment outcomes of smartphone overusers with acute acquired comitant esotropia. METHODS: We retrospectively reviewed the medical records of patients ≥ 15 years of age who used a smartphone for > 4 hours a day for > 1 year, and who were diagnosed with acute acquired comitant esotropia from May 2011 to January 2016. We analyzed sex, age at the time of manifestation and duration of esotropia, refractive error, deviated angle at the first and final visits, and the results of refraining from smartphone use, use of the Fresnel prism, and surgery for esotropia. RESULTS: A total of 13 patients were studied, including 8 males and 5 females. The mean age at development of esotropia was 22.7 ± 9.7 years. The mean duration of esotropia before the first visit was 28.0 ± 33.0 months, and the mean follow-up period was 16.4 ± 16.4 months. The mean angle of esotropia was 21.8 ± 7.0 prism diopters (PD) at distance and 22.2 ± 7.9 PD at near. There were eight myopic patients; the other patients were emmetropia. The esotropia of all patients did not improve after refraining from smartphone use. There was no improvement in five patients who were wearing the Fresnel prism for ≥ 4 months. A total of six patients were treated with bilateral medial rectus recession; only one patient remained orthotropic at postoperative 6 months, three patients were undercorrected, and two had a recurrence. CONCLUSIONS: Esotropia persisted after refraining from smartphone use or wearing a Fresnel prism in acute acquired comitant esotropia patients who were smartphone overusers, and the surgical prognosis of these patients was relatively poor.

Preventive effect of Angelica gigas Nakai extract oral administration on dry eye syndrome

Objective: To identify the preventive effect of Angelica gigas Nakai (A. gigas Nakai) extract in a benzalkonium chloride-induced dry eye model. Methods: A total of 28 mice were divided into 4 groups: 1) Normal group: mice received only saline; 2) positive control group: mice received an oral solution without A. gigas Nakai extract at 10:00 a.m. and 0.2% benzalkonium chloride eye drops at 2:00 p.m.; 3) A. gigas Nakai extract (5 mg); 4) A. gigas Nakai extract (10 mg). Both group 3) and group 4) received an oral solution with A. gigas Nakai extract (either 5 mg/kg or 10 mg/kg) at 10:00 a.m. and 0.2% benzalkonium chloride eye drops at 2:00 p.m. After 14 d of follow-up, tear volume measurement and fluorescein staining were evaluated for the recovery effects on ocular surface. Histologic analysis was conducted by hematoxylin and eosin staining. Apoptosis on ocular epithelium layer was examined using terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling staining. Expression of TNF- α was also measured using western blot analysis. Results: An increase in both the tear volume and the sustained fluorescein staining scores was observed, demonstrating the preventive effects of A. gigas Nakai extract. Structure changes such as irregularity of the epithelial layer and corneal epithelial cell death were inhibited in the A. gigas Nakai extract groups. Expression of TNF- α moderately declined; however, its expression level was still higher, compared to the normal group. Conclusions: Results from the current study show the significant preventive effect of A. gigas Nakai extract in a mouse model of benzalkonium chloride-induced dry eye syndrome. Thus, A. gigas Nakai extract could be considered as an oral preventive agent for dry eye syndrome in the future. http://www.apjtm.org/article.asp?issn=1995-7645;year=2018;volume=11;issue=6;spage=369;epage=375;aulast=Lee;type=2.

Review: optically-triggered phase-transition droplets for photoacoustic imaging

Optically-triggered phase-transition droplets have been introduced as a promising contrast agent for photoacoustic and ultrasound imaging that not only provide significantly enhanced contrast but also have potential as photoacoustic theranostic molecular probes incorporated with targeting molecules and therapeutics. For further understanding the dynamics of optical droplet vaporization process, an innovative, methodical analysis by concurrent acoustical and ultrafast optical recordings, comparing with a theoretical model has been employed. In addition, the repeatability of the droplet vaporization-recondensation process, which enables continuous photoacoustic imaging has been studied through the same approach. Further understanding the underlying physics of the optical droplet vaporization and associated dynamics may guide the optimal design of the droplets. Some innovative approaches in preclinical studies have been recently demonstrated, including sono-photoacoustic imaging, dual-modality of photoacoustic and ultrasound imaging, and super-resolution photoacoustic imaging. In this review, current development of optically triggered phase-transition droplets and understanding on the vaporization dynamics, their applications are introduced and future directions are discussed.

Gray Matter Volume Reductions Were Associated with TPH1 Polymorphisms in Depressive Disorder Patients with Suicidal Attempts

OBJECTIVE: Structural changes of brain areas have been reported in depressive disorder and suicidal behavior (SB), in which TPH1 also has been known as a promising candidate gene. We investigated gray matter volume (GMV) differences, TPH1 rs1800532 and rs1799913 polymorphisms previously found to be associated with depressive disorder and SB, and the relationship between the two markers. METHODS: Thirteen depressive disorder patients with suicidal attempts (SA) and twenty healthy controls were included. We examined GMV differences using a voxel-based morphometry and regions of interest analysis. Direct sequencing was used for genotyping. RESULTS: The patients showed significant GMV reduction in left cerebral region including middle frontal gyrus, inferior frontal gyrus, and anterior cingulate cortex; in right middle temporal gyrus; in left cerebellar tonsil; and in right cerebral region including precentral gyrus and postcentral gyrus (corrected p < 0.005). The right precentral and postcentral gyri GMV values of AA and CA genotypes patients were significantly decreased compared to those of CC genotype subjects (corrected p=0.040). CONCLUSION: These findings show the possibility that both GMV reductions and TPH1 rs1800532/rs1799913 A allele may be involved in the pathogenesis of depressive disorder patients with SA.

Two Cases of Serous Retinal Detachment Following Vitrectomy in Patients with Proliferative Diabetic Retinopathy

PURPOSE: In the present study, 2 cases of serous retinal detachment in patients diagnosed with proliferative diabetic retinopathy after pars plana vitrectomy are reported. CASE SUMMARY: (Case 1) A 38-year-old female diagnosed with high-risk proliferative diabetic retinopathy underwent pars plana vitrectomy and cataract surgery due to intravitreal hemorrhage. One day after the operation, fundus photograph and optical coherence tomography (OCT) revealed serous retinal detachment. After ensuring that no retinal hole was present based on fundus examination, the patient was diagnosed with serous retinal detachment and antimicrobial and steroid eye drops were applied. After 1 week, subretinal fluid disappeared. (Case 2) A 63-year-old male diagnosed with proliferative diabetic retinopathy underwent pars plana vitrectomy due to right vitreous hemorrhage. On postoperative day 1, focal subretinal fluid under the macula was observed using OCT. Intravitreal triamcinolone injection was performed during surgery and steroid eye drops were applied. Subretinal fluid collection was absorbed 5 days postoperatively. CONCLUSIONS: Two cases of serous retinal detachment that occurred postoperatively in patients with diabetic retinopathy are reported. Serous retinal detachment was resolved after several days without specific management.

Association Between a Polymorphism in CASP3 and CASP9 Genes and Ischemic Stroke

OBJECTIVE: To investigate whether the polymorphisms of CASP3 gene (rs4647602, intron A/C and rs1049216, UTR C/T) and CASP9 gene (rs1052576, Gln/Arg G/A and rs1052571, Ser/Val T/C) were associated with the development, and clinical severity of ischemic stroke and functional consequences after stroke. METHODS: Genomic DNA from 121 ischemic stroke patients and 201 healthy control subjects were extracted, and polymerase chain reaction products were sequenced. To investigate the association of polymorphisms and the development, and National Institutes of Health Stroke Scale (K-NIHSS), logistic regression models were analyzed. RESULTS: Polymorphism of the untranslational region of CASP3 (rs1049216, UTR C/T) has been associated with the development of ischemic stroke—in codominant1 model (odds ratio [OR], 0.51; 95% confidence interval [CI], 0.29–0.88; p=0.017), in dominant model (OR, 0.57; 95% CI, 0.34–0.97; p=0.034), and in the overdominant model (OR, 0.50; 95% CI, 0.29–0.87; p=0.011). A missense SNP of CASP9 gene (rs1052571, Ser/Val T/C) was associated with the development of ischemic stroke (OR, 1.93; 95% CI, 1.05–3.55; p=0.034 in recessive model). CONCLUSION: These results indicate the possibility that CASP3 and CASP9 genes are markers for the development of ischemic stroke.

Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population

OBJECTIVE: Mitochondrial dysfunction is a prominent and early feature of Alzheimer's disease (AD). The morphologic changes observed in the AD brain could be caused by a failure of mitochondrial fusion mechanisms. The aim of this study was to investigate whether genetic polymorphisms of two genes involved in mitochondrial fusion mechanisms, optic atrophy 1 (OPA1) and mitofusin 2 (MFN2), were associated with AD in the Korean population by analyzing genotypes and allele frequencies. METHODS: One coding single nucleotide polymorphism (SNP) in the MFN2, rs1042837, and two coding SNPs in the OPA1, rs7624750 and rs9851685, were compared between 165 patients with AD (83 men and 82 women, mean age 72.3±4.41) and 186 healthy control subjects (82 men and 104 women, mean age 76.5±5.98). RESULTS: Among these three SNPs, rs1042837 showed statistically significant differences in allele frequency, and genotype frequency in the co-dominant 1 model and in the dominant model. CONCLUSION: These results suggest that the rs1042837 polymorphism in MFN2 may be involved in the pathogenesis of AD.

Diagnosis of Pancreatic Neuroendocrine Tumors

Pancreatic neuroendocrine tumors (PNETs) are relatively rare; however, the incidence has increased over the last few decades. They are classified as functional or non-functional tumors according to the presence of associated clinical symptoms. The majority are non-functional tumors. For classification and staging, the World Health Organization 2010 classification system is the most commonly accepted. Chromogranin A is the most sensitive marker but has insufficient specificity. In general, PNETs are hypervascular tumors, and multiphasic contrast-enhanced computed tomography is considered the first choice for imaging study. Multiphasic magnetic resonance imaging can detect PNETs smaller than 2 cm and small liver metastasis compared with other modalities. Somatostatin receptor scintigraphy is often used in cases where functional PNETs are suspected. Positron emission tomography (PET) scan with 18F-fluorodeoxyglucose cannot visualize PNETs, but PET with 68-Ga DOTATATE can. Endoscopic ultrasonography can characterize smaller PNETs using contrast and confirm histology through fine needle aspiration or biopsy. In this article, we review the characteristics of grading systems and diagnostic modalities commonly used for PNETs.

A resonance frequency analysis of sandblasted and acid-etched implants with different diameters: a prospective clinical study during the initial healing period

PURPOSE: The possibility of immediate or early loading has become popular in implant dentistry. A prerequisite for the immediate or early loading of an implant prosthesis is the achievement of initial stability in the implant. Moreover, in response to clinicians' interest in verifying clinical stability to determine the optimal time point for functional loading, a non-invasive method to assess implant stability has been developed on the basis of resonance frequency analysis (RFA). The primary objective of this study was to monitor the stability of sandblasted, large-grit, and acid-etched (SLA) implants with different diameters during the early phases of healing by RFA. The secondary objective was to evaluate how the initial stability of implants varied depending on different surface modifications and other contributing factors. METHODS: Thirty-five implants (25 SLA implants and 10 resorbable blasting media [RBM] implants) placed in 20 subjects were included. To measure implant stability, RFA was performed at baseline and at 1, 2, 3, 4, 6, and 10 weeks after surgery. RESULTS: The longitudinal changes in the implant stability quotient (ISQ) values were similar for the SLA implants with different diameters and for the RBM implants. During the initial healing period, the ISQ decreased after installation and reached its lowest values at 1 week and 2 weeks, respectively. The mean ISQ values in the SLA implants were significantly higher in Ø 5.0 mm implants than in Ø 4.0 mm implants. Men showed a higher ISQ than women. Mandibular sites showed a higher ISQ than maxillary sites. CONCLUSIONS: All implants used in this study are suitable for immediate or early loading under appropriate indications. A wider diameter and SLA surface treatment of implants could improve the stability, if the implant is fixed with at least 30 Ncm of insertion torque.

Clinical Characteristics and Factors Influencing the Occurrence of Acute Eosinophilic Pneumonia in Korean Military Personnel

Acute eosinophilic pneumonia (AEP) is an uncommon inflammatory lung disease, and limited data exist concerning the clinical characteristics and factors that influence its occurrence. We retrospectively reviewed the records of AEP patients treated at Korean military hospitals between January 2007 and December 2013. In total, 333 patients were identified; their median age was 22 years, and all were men. All patients presented with acute respiratory symptoms (cough, sputum, dyspnea, or fever) and had elevated levels of inflammatory markers including median values of 13,185/microL for white blood cell count and 9.51 mg/dL for C-reactive protein. All patients showed diffuse ground glass opacity/consolidation, and most had pleural effusion (n = 265; 80%) or interlobular septal thickening (n = 265; 85%) on chest computed tomography. Most patients had normal body mass index (n = 255; 77%), and only 30 (9%) patients had underlying diseases including rhinitis, asthma, or atopic dermatitis. Most patients had recently changed smoking habits (n = 288; 87%) and were Army personnel (n = 297; 89%).The AEP incidence was higher in the Army group compared to the Navy or Air Force group for every year (P = 0.002). Both the number of patients and patients with high illness severity (oxygen requirement, intensive care unit admission, and pneumonia severity score class > or = III) tended to increase as seasonal temperatures rose. We describe the clinical characteristics of AEP and demonstrate that AEP patients have recently changed smoking habits and work for the Army. There is an increasing tendency in the numbers of patients and those with higher AEP severity with rising seasonal temperatures.

Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population

OBJECTIVE: To investigate whether baculoviral inhibitor of apoptosis (IAP) repeat containing 5 gene (BIRC5) polymorphisms are associated with the development and clinical phenotypes of ischemic stroke in Korea population. METHODS: We enrolled 121 ischemic stroke patients and 291 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of National Institutes of Health Stroke Survey (<6 or ≥6) and Modified Barthel Index (<60 or ≥60). Single nucleotide polymorphisms (SNPs) of BIRC5 (rs3764383 and rs2071214) were selected and genotyped by direct sequencing for all subjects. Multiple logistic regression models (codominant 1 and 2, dominant, recessive, overdominant and log-additive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. RESULTS: In analysis of stroke susceptibility, the genotype and allele frequencies of rs3764383 exhibited no difference between the control group and the ischemic stroke group. SNP rs2071214 was associated with ischemic stroke in the codominant (p=0.003), dominant (p=0.002), overdominant (p=0.005), and log-additive (p=0.008) models, respectively. The G allele frequency of rs2071214 was significantly (p=0.009) associated with susceptibility for ischemic stroke (OR, 1.57; 95% CI, 1.12-2.21). However, in the analysis for clinical phenotype, no SNP of the BIRC5 gene was found to be associated with ischemic stroke. CONCLUSION: These results suggest that a missense SNP (rs2071214) of BIRC5 may be associated with the development of ischemic stroke in the Korean population.

Interleukin-6 Receptor Polymorphisms Contribute to the Neurological Status of Korean Patients with Ischemic Stroke

To investigate the contribution of the interleukin-6 receptor (IL-6R) gene single nucleotide polymorphisms (SNPs) to the neurological status of Korean patients with ischemic stroke (IS), two SNPs of the IL-6R gene (rs4845617, 5 UTR; rs2228144, Ala31Ala) were selected. IS patients were classified into clinical phenotypes according to two well-defined scores: the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index scores. There were 121 IS patients and 291 control subjects. The SNP rs4845617 significantly contributed to the neurological status of patients with IS (P = 0.011 in codominant model 2, P = 0.006 in recessive model, and P = 0.008 in log-additive model). Allele frequencies of rs4845617 and rs2228144 demonstrated no significant difference in IS patients and controls. The AG and GG haplotypes differed between the NIHSS 1 (NIHSS scores or = 6) group in patients with IS (P = 0.014, P = 0.0024). These results suggest that rs4845617 of the IL-6R gene is associated with the neurologic status of Korean patients with IS.

Association Study of Polymorphisms of Epidermal Growth Factor and Epidermal Growth Factor Receptor With Benign Prostatic Hyperplasia in a Korean Population / 대한배뇨장애요실금학회지

PURPOSE: Recent studies have suggested that specific single-nucleotide polymorphisms (SNPs) contribute to the clinical features of benign prostatic hyperplasia (BPH). In this study, we investigated the relationships of genetic polymorphisms of the epidermal growth factor (EGF) gene and the epidermal growth factor receptor (EGFR) gene with BPH. METHODS: A total of 218 patients with BPH were enrolled in this study. We evaluated the relationship between eight SNPs in the EGF and EGFR genes and prostate volume, prostate-specific antigen (PSA), and International Prostate Symptom Score of BPH patients. Each SNP was genotyped by direct sequencing. Statistical analysis applying codominant, dominant, recessive, and log-additive models was performed via logistic regression. RESULTS: The rs11568943 and rs11569017 SNPs in the EGF gene showed significant associations with prostate volume (rs11568943: P=0.038 in the log-additive model, P=0.024 in the allele distribution; rs11569017, P=0.031 in the dominant model, P=0.028 in the log-additive model, P=0.020 in the allele distribution). Additionally, the rs3756261, rs11568943, and rs11569017 SNPs of the EGF gene and the rs2293347 SNP of the EGFR gene were associated with PSA levels (P<0.05 in each model, respectively). CONCLUSIONS: These results suggest that the EGF gene may affect prostate volume. In addition, the EGF and EGFR genes may be associated with PSA levels in patients with BPH.

Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population

OBJECTIVE: To investigate whether four single nucleotide polymorphisms (SNPs) rs2293054 [Ile734Ile], rs1047735 [His902His], rs2293044 [Val1353Val], rs2682826 (3'UTR) of nitric oxide synthase 1 (NOS1) are associated with the development and clinical phenotypes of ischemic stroke. METHODS: We enrolled 120 ischemic stroke patients and 314 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of the National Institutes of Health Stroke Survey (NIHSS, <6 and ≥6) and Modified Barthel Index (MBI, <60 and ≥60). SNPStats, SNPAnalyzer, and HelixTree programs were used to calculate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. Multiple logistic regression models were performed to analyze genetic data. RESULTS: No SNPs of the NOS1 gene were found to be associated with ischemic stroke. However, in an analysis of clinical phenotypes, we found that rs2293054 was associated with the NIHSS scores of ischemic stroke patients in codominant (p=0.019), dominant (p=0.007), overdominant (p=0.033), and log-additive (p=0.0048) models. Also, rs2682826 revealed a significant association in the recessive model (p=0.034). In allele frequency analysis, we also found that the T alleles of rs2293054 were associated with lower NIHSS scores (p=0.007). Respectively, rs2293054 had a significant association in the MBI scores of ischemic stroke in codominant (p=0.038), dominant (p=0.031), overdominant (p=0.045), and log-additive (p=0.04) models. CONCLUSION: These results suggest that NOS1 may be related to the clinical phenotypes of ischemic stroke in Korean population.